Canonical Allele Identifier: CA16041038
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370585
ClinVar RCV Id: RCV000411027
dbSNP Id: rs1057516607
MyVariant Identifiers: chr6:g.51720709del (hg19) chr6:g.51855911del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51855912del , CM000668.2:g.51855912del GRCh38
NC_000006.11:g.51720710del , CM000668.1:g.51720710del GRCh37
NC_000006.10:g.51828669del NCBI36
NG_008753.1:g.236715del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.7893del MANE Select ENSP00000360158.3:p.Trp2631Ter
ENST00000340994.4:c.7893del ENSP00000341097.4:p.Trp2631Ter
ENST00000371117.7:c.7893del ENSP00000360158.3:p.Trp2631Ter
NM_138694.3:c.7893del NP_619639.3:p.Trp2631Ter
NM_170724.2:c.7893del NP_733842.2:p.Trp2631Ter
XM_011514679.1:c.7893del XP_011512981.1:p.Trp2631Ter
XM_011514680.1:c.7893del XP_011512982.1:p.Trp2631Ter
XM_011514681.1:c.7893del XP_011512983.1:p.Trp2631Ter
XM_011514682.1:c.7893del XP_011512984.1:p.Trp2631Ter
XM_011514683.1:c.7251del XP_011512985.1:p.Trp2417Ter
XM_011514684.1:c.7182del XP_011512986.1:p.Trp2394Ter
XM_011514685.1:c.7893del XP_011512987.1:p.Trp2631Ter
XM_011514686.1:c.7893del XP_011512988.1:p.Trp2631Ter
XM_011514687.1:c.7893del XP_011512989.1:p.Trp2631Ter
XM_011514688.1:c.7893del XP_011512990.1:p.Trp2631Ter
XM_011514689.1:c.7893del XP_011512991.1:p.Trp2631Ter
XM_011514690.1:c.1968del XP_011512992.1:p.Trp656Ter
XM_011514691.1:c.1968del XP_011512993.1:p.Trp656Ter
XM_011514680.3:c.7893del XP_011512982.1:p.Trp2631Ter
XM_011514682.3:c.7893del XP_011512984.1:p.Trp2631Ter
XM_011514683.3:c.7251del XP_011512985.1:p.Trp2417Ter
XM_011514684.3:c.7182del XP_011512986.1:p.Trp2394Ter
XM_011514686.2:c.7893del XP_011512988.1:p.Trp2631Ter
XM_011514688.2:c.7893del XP_011512990.1:p.Trp2631Ter
XM_011514690.3:c.1968del XP_011512992.1:p.Trp656Ter
XM_011514691.3:c.1968del XP_011512993.1:p.Trp656Ter
XM_017010944.2:c.7893del XP_016866433.1:p.Trp2631Ter
XM_017010945.2:c.7818del XP_016866434.1:p.Trp2606Ter
XM_017010946.2:c.7893del XP_016866435.1:p.Trp2631Ter
XM_017010947.2:c.7629del XP_016866436.1:p.Trp2543Ter
XM_017010948.2:c.7182del XP_016866437.1:p.Trp2394Ter
XM_017010949.2:c.6033del XP_016866438.1:p.Trp2011Ter
XM_017010950.1:c.7893del XP_016866439.1:p.Trp2631Ter
XM_017010951.1:c.7893del XP_016866440.1:p.Trp2631Ter
XM_017010952.1:c.7893del XP_016866441.1:p.Trp2631Ter
XR_001743469.1:n.8169del
NM_138694.4:c.7893del MANE Select NP_619639.3:p.Trp2631Ter
NM_170724.3:c.7893del NP_733842.2:p.Trp2631Ter
Search 100 bp 5'
Search 100 bp 3'